Ring chromosome 21: Characterization of DNA sequences at sites of breakage and reunion

Haig Kazazian, S. E. Antonarakis, C. Wong

Research output: Contribution to journalArticle

Abstract

We have presented studies of an unusual child with an r21 chromosome who lacks the phenotype of Down syndrome. We have sequenced the region of the breakpoint in the normal DNA fragment and have isolated the abnormal breakpoint fragment as a 7.5-kb EcoRI fragment. We have preliminary evidence localizing the breakpoint to a few hundred base pairs of 21q DNA. Since the child lacks the classical phenotype of Down syndrome, further studies of the DNA distal to the breakpoint on the long arm of chromosome 21 may help us to elucidate 'genes' important to the phenotype of Down syndrome.

Original languageEnglish (US)
Pages (from-to)33-42
Number of pages10
JournalAnnals of the New York Academy of Sciences
VolumeVOL. 450
StatePublished - 1985

Fingerprint

Reunion
DNA sequences
Chromosomes
Down Syndrome
Phenotype
DNA
Chromosomes, Human, Pair 21
Base Pairing
Genes
Chromosome 21 ring
Ring
Chromosome

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Ring chromosome 21 : Characterization of DNA sequences at sites of breakage and reunion. / Kazazian, Haig; Antonarakis, S. E.; Wong, C.

In: Annals of the New York Academy of Sciences, Vol. VOL. 450, 1985, p. 33-42.

Research output: Contribution to journalArticle

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